Search Results - Simona Bianconi
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P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes* by Emily Groopman, Jenny Goldstein, Amanda Thomas-Wilson, Daniel Reich, Emily Kyle, Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang, Sarah Young, Simona Bianconi, Nicola Longo, Heidi Wallis, Saadet Mercimek-Andrews
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model by Kristin Gabor, Emily V. Mesev, Jennifer Madenspacher, Julie Meacham, Prashant Rai, Sookjin Moon, Christopher A. Wassif, Saame Raza Shaikh, C.J. Tucker, Peer Karmaus, Simona Bianconi, Forbes D. Porter, Michael B. Fessler
Published in The Journal of Clinical Investigation (2024-03-01)Get full text
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Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency” by Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Published in Molecular Genetics and Metabolism Reports (2023-12-01)Get full text
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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency by Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Published in Molecular Genetics and Metabolism Reports (2023-12-01)Get full text
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